Research article
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
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* Corresponding author: Alessandra Ferlini fla@unife.it
1 Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
2 Ariadne Genomics Inc., Rockville, USA
3 Department of Neurology, Bellaria Hospital, Bologna, Italy
4 Interdepartmental Vascular Disease Center, University of Ferrara, Ferrara, Italy
BMC Medical Genetics 2010, 11:64 doi:10.1186/1471-2350-11-64
Published: 28 April 2010Additional files
Additional file 1:
Patients Population Demographics, Clinical Parameters, HLA DRB1 haplotype and CNVs number. Top table: EDSS: Expanded Disability Status Scale (the most widely-used disability score). MS-SS: Multiple Sclerosis Severity Score (score expressing the tendency of MS to progress over the years). VH: Venous Haemodynamic Criteria (number of anomalous haemodynamic parameters detected by colour Doppler protocol), VHISS: venous haemodynamic insufficiency severity score [34]. VM: venous malformations (number of stenosing malformations affecting the cerebrospinal veins, detected by selective venography). CNVs: copy number variations. Bottom table: Summary of clinical characteristics, HLA DRB1*5 typing and number of CNVs of each patient studied.
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Additional file 2:
Genomic distribution of CNVs for each patient. Genomic coordinates of the known CNVs identified for each patient. Column F shows the genes where any CNVs are localized and column H the identification number of known CNVs as described in the database of Genomic Variants.
Format: XLS Size: 45KB Download file
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Additional file 3:
CGH profile of the HLA locus. Example of a CGH profile in patient PF, showing duplications (red dots) and deletions (green dots)- Light blue bars in the lower part of the figure represent genes, while the known polymorphic CNVs are reported with their identification number (Database of Genomic Variants at http://projects.tcag.ca/variation/ webcite). Below is shown the map in Mbases of the locus with the distribution and density of CNVs.
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